Family struggles with rare disease, hopes for awareness

Friday

SOMERSET — About a year after Júlio Matos started complaining of pain, burning and numbness in his feet, it was his family who finally put the pieces together and helped solve his medical mystery.

“My mom was watching a Portuguese channel one day and they were talking about this disease that affects people of Portuguese descent. It sounded a lot like what my dad was feeling,” said his daughter Renee Matos Driscoll, who serves as caregiver for the 79-year-old Somerset resident.

Matos, who would tell his daughter that he felt like “electricity was running up his legs,” had initially consulted his primary caregiver and a local neurologist.

“I didn’t feel he was getting the help he needed,” Driscoll said. “You have to be your own advocate.”

At the time the TV program aired, the Somerset resident was already under the care of a neuropathy specialist in Boston.

“He tested my dad for everything under the sun,” Driscoll said. “He was wonderful, very kind, and really listened… but he had no idea what was going on.”

So the family asked that Matos be tested for a genetic mutation discussed on the TV show, which was first described in 1952 in Portugal by Mário Corino de Andrade.

“The doctor said that’s incredibly rare, I doubt this is the reason why he is experiencing all these ailments,” recalled Driscoll.

The test confirmed the family’s suspicion.

“Sure enough, this was what was going on with him. It took a lot to get to that point.”

Matos suffers from hereditary ATTR (hATTR) amyloidosis — a rare, life-threatening genetic condition often misdiagnosed because symptoms can resemble those of other conditions.

Caused by a gene change (mutation) that affects the function of a protein in the blood called transthyretin (TTR), which is made primarily in the liver, the condition most commonly affects the nerves and the heart. It can lead to significant disability, decreased quality of life and a shortened average life expectancy.

“The sad part of this disease is that it’s progressive and it gets worse over time,” Driscoll said. “That’s why an early diagnosis is so important.”

Matos’ mobility has been greatly impacted.

“He used to walk with a cane, now he needs a walker. If he is going anywhere long distance, he needs a wheelchair,” Driscoll said. “Now, it’s affecting his hands. My dad is truly one of those guys who could go to your house and help you with everything… he was a skilled carpenter. He can’t do any of those things anymore because his hands are numb now.”

It is estimated that the condition affects 50,000 worldwide. Portugal, however, has the highest number of diagnosed symptomatic cases of hATTR amyloidosis (approximately 2,000) and more than 500 diagnosed, asymptomatic carriers, according to the abstracts of the First European Meeting for ATTR Amyloidosis for Doctors and Patients held in Paris in November of 2017 — the first event of this nature.

“We suspect that some of the family members who have already passed had this, but just didn’t know it,” Driscoll said. “My dad’s brother, Tio Zeca… we’re pretty certain that he had it. He died close to three years ago. Since my dad was diagnosed, my dad’s other brother, Tio Henrique, who lives in Portugal now, was also diagnosed.”

The condition is diagnosed in a variety of ways; however, blood tests and biopsy are commonly used to confirm the presence of TTR amyloid protein. Genetic testing may also be used to identify the specific TTR mutation and help confirm a diagnosis.

The degree and severity of symptoms and onset vary from person to person.

With such a high incidence among the Portuguese, Driscoll said there is an urgent need for awareness among local families.

“This is part of the reason I’ve decided to speak and get this message out,” she said. “The earlier people get the proper medical attention, the better off they are in the long run… it can slow down the progression of the disease.”

Currently, there are no approved treatments for hATTR amyloidosis in the United States, though some patients may benefit from a liver transplant, which could substantially reduce the amount of TTR protein made in the body.

Matos is currently under the care of Dr. John L. Berk at the Boston University School of Medicine Amyloidosis Center, which has become an international resource for patient care, diagnostic testing, and information on amyloid diseases.

“We’re so incredibly fortunate that right here in Boston we have an amyloidosis center. There are people who fly all over the country to get treatment,” Driscoll said.

According to the Amyloidosis Center’s website, there are a number of supportive treatments or measures taken to alleviate specific problems and symptoms caused by amyloid deposits in various organs.

Matos is undergoing pain management therapy and for the last six months has been taking Patisiran, an investigational RNA interference therapeutic agent administered intravenously, which inhibits hepatic production of transthyretin and improves clinical manifestations of the disease, according to two studies published in the July 5 issue of the New England Journal of Medicine.

Patisiran is currently under priority review as a Breakthrough Therapy with the U.S. Food and Drug Administration (FDA), with an action date of August 11, 2018.

The Somerset school teacher, who traces her Portuguese roots to Aveiro, mainland Portugal, hopes sharing her family’s story will help others.

“If I can reach only one person who has a family member showing these symptoms… I just want to get the word out in our community, so we know about it and get the proper care,” she concluded.

For more information about ATTR amyloidosis, please visit:

www.hattrbridge.com

www.bu.edu/amyloid

http://amyloidosis.org

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